chr3-42658395-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145166.4(ZBTB47):c.40C>G(p.Leu14Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145166.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZBTB47 | NM_145166.4 | c.40C>G | p.Leu14Val | missense_variant | Exon 2 of 6 | ENST00000232974.11 | NP_660149.2 | |
ZBTB47 | NM_001410746.1 | c.124C>G | p.Leu42Val | missense_variant | Exon 2 of 6 | NP_001397675.1 | ||
ZBTB47 | XM_047449234.1 | c.220C>G | p.Leu74Val | missense_variant | Exon 3 of 7 | XP_047305190.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZBTB47 | ENST00000232974.11 | c.40C>G | p.Leu14Val | missense_variant | Exon 2 of 6 | 5 | NM_145166.4 | ENSP00000232974.6 | ||
ZBTB47 | ENST00000680014.1 | c.124C>G | p.Leu42Val | missense_variant | Exon 2 of 6 | ENSP00000504903.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.40C>G (p.L14V) alteration is located in exon 2 (coding exon 1) of the ZBTB47 gene. This alteration results from a C to G substitution at nucleotide position 40, causing the leucine (L) at amino acid position 14 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.